新疆南部地区维吾尔族儿童尿路结石与维生素D受体基因、降钙素受体基因多态性相关性研究

发布时间：2018-05-25 16:49

本文选题：尿路结石 + VDR基因　；参考：《新疆医科大学》2013年硕士论文

【摘要】：目的:探讨维生素D受体（VDR）基因与降钙素受体（CTR）基因多态性与新疆南部地区维吾尔族小儿尿路结石相关性，阐明分子遗传学规律。方法:维吾尔族尿路结石患儿（病例组）74例，维吾尔族正常儿童（对照组）103例纳入此研究，应用聚合酶链反应-限制性片段长度多态性分析研究VDR基因FokI和ApaI位点多态性及CTR基因多态性与新疆南部地区维吾尔族小儿尿路结石相关性。结果: VDR基因FokI位点FF、 Ff、 ff三种基因型在病例组及对照组之间分布有统计学意义（χ~2=7.818,P＜0.05），，基因型Ff在病例组占58.1%，明显高于对照组，差异有统计学意义（P＜0.05）。VDR基因ApaI位点AA、Aa、aa三种基因型在病例组中的分布相似于对照组，分布无统计学差异。CTR基因各种基因型在病例组与对照组之间的分布有统计学意义（P＜0.05）。ApaI位点基因型在病例组男女之间分布有差异，但VDR基因FokI位点、CTR基因在性别之间无基因型分布差异。结论: VDR基因FokI位点多态性与CTR基因多态性将来可作为维吾尔族小儿泌尿系结石的候选基因。
[Abstract]:Objective: to investigate the relationship between the polymorphism of vitamin D receptor (VDR) gene and calcitonin receptor (CTR) gene and urinary tract stones in Uygur children in southern Xinjiang, and to elucidate the rules of molecular genetics. Methods: 74 Uygur children with urinary tract stones and 103 normal Uygur children were included in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the association of VDR gene FokI and ApaI locus polymorphism and CTR gene polymorphism with urinary tract stones in Uygur children in southern Xinjiang. Results: the distribution of three FF, Ff, ff genotypes in FokI locus of VDR gene was statistically significant between the case group and the control group (蠂 ~ (2) 7.818) (P < 0.05). The percentage of genotype F _ f in the case group was 58.1%, which was significantly higher than that in the control group. There was significant difference in the distribution of the three genotypes of ApaI locus of P < 0.05).VDR gene in the case group, and the distribution of the three genotypes in the case group was similar to that in the control group. There was no statistical difference in the distribution of all genotypes of CTR gene between the case group and the control group. There was a significant difference in the distribution of the genotype P < 0.05).ApaI locus between the male and the female in the case group. However, there was no genotypic distribution difference between genders at FokI locus of VDR gene. Conclusion: VDR gene FokI locus polymorphism and CTR gene polymorphism can be used as candidate genes for Uygur children urinary calculi in the future.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R726.9

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